Autoimmune Liver Diseases (AILD)

  • Autoimmune Hepatitis (AIH)

    Autoimmune hepatitis (AIH) is a rare autoimmune liver disease. The immune system of patients with AIH mistakenly targets the body’s own liver cells causing damage and inflammation. AIH can be diagnosed at any age and affects more females than males.…
  • IgG4-related sclerosing cholangitis

  • Isolated neonatal sclerosing cholangitis

  • Primary Biliary Cholangitis (PBC)

    Primary Biliary Cholangitis, formerly Primary Biliary Cirrhosis PBC has an enormous impact on a patient’s daily life. Here, you can read the personal stories of twelve people who have been diagnosed with PBC (by Nederlandse Leverpatiënten Vereniging): PBC Patient Stories…
  • Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

  • Primary sclerosing cholangitis (PSC)

    PSC is a rare, immune-mediated liver disease that leads to scarring (sclerosing) following inflammation in the bile ducts (cholangitis). This means that bile, which normally flows through the bile ducts into the intestines, can’t drain properly and it builds up…
  • Secondary sclerosing cholangitis

Metabolic, Biliary Atresia & Related Diseases

  • Alpha-1 Antitrypsin Deficiency (AATD)

    Alpha1-antitrypsin deficiency is an inborn genetic disorder that affects 1 in 2500 individuals. It increases susceptibility to lung disease in adults (emphysema), and liver disease in both children and adults. It is one of the main causes of neonatal cholestasis,…
  • Biliary Atresia

    ERN RARE-LIVER covers the following subtypes: Isolated Biliary Atresia Biliary atresia with splenic malformation syndrome…
  • Genetic/ Familial Cholestatic Disease

    Watch here a short educational video on Neonatal Cholestasis: video://neonatal_cholestasis-easl_school.jpg. Short educational video on MDR3 deficiency and cholestatic liver diseases: video://mdr3_deficiency-cholestatic_ld-easl_school.jpg…
    • Alagille Syndrome

    • Congenital bile acid synthesis defect

    • Crigler-Najjar syndrome

    • Disorder of porphyrin and heme metabolism, Bilirubin metabolism disorder

    • Dubin-Johnson syndrome

    • Progressive familial intrahepatic cholestasis (PFIC)

      Bile is essential in order to break down fats and is produced in the liver. In PFIC patients, the transport of bile from the liver to the intestine is disrupted. Therefore, bile acids and in some cases, other metabolites such…
    • Progressive familial intrahepatic cholestasis (PFIC)

      Жовч має важливе значення для того, щоб розщепити жири і виробляється в печінці. У пацієнтів з ПСВХ порушується транспортування жовчі з печінки в кишківник. Тому жовчні кислоти і в деяких випадках інші метаболіти, такі як білірубін, накопичуються в печінці і…
    • Rotor syndrome

  • Low phospholipid associated cholelithiasis (LPAC) syndrome

    © association albi www.albi-france.org Understanding LPAC Syndrome LPAC syndrome is a genetic predisposition to the formation of gallstones in and outside the liver. It manifests itself by intense intermittent abdominal pain in the hepatic region, linked to the presence and/or…
  • Wilson Disease

    Wilson disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson disease are diagnosed between the ages of 5 and 35, but it can affect younger and…

Structural Liver Disease

  • Biliary Malformations/ Choledochal malformations (CM)

    Choledochal malformations (CM, previously also called ‘choledochal cysts’ or ‘bile duct cysts’), are congenital malformations of the biliary tract. Bile is secreted by the liver into small ducts that join to form the common bile duct. Between meals, secreted bile…
    • Caroli Disease

  • Polycystic Liver Disease (PLD)/ Congenital Fibrosis

    Polycystic Liver Disease (PLD) is a genetic disease, which means it is caused by mutations in your DNA. Patients with PLD have numerous cysts in their liver; a cyst is a closed sac filled with fluid. The buildup of multiple…
  • Rare liver tumors

    • Fibrolamellar hepatocarcinoma

    • Hepatic epitheloid hemangioendothelioma & Angiosarcoma

    • Hepatobiliary tumors with stem cell features & mixed types (CCA/HCC)

    • Hepatoblastoma

    • Intrahepatic Cholangiocarcinoma

    • Primary hepatic neuroendocrine tumors (NET)

  • Vascular Liver Disease

    Vascular liver diseases are disorders of the hepatic vasculature that lead to obstruction of blood vessels in and near the liver. Watch here our educational video on how to manage vascular liver diseases:…
    • Budd-Chiari-Syndrome

      Vascular liver diseases (VLD) are rare diseases characterized by a primary involvement of the hepatic veins (Budd-Chiari syndrome: BCS, ORPHA 131), the portal system (Portal vein thrombosis: PVT, ORPHA 854) with respective prevalence for BCS and PVT in Europe of…
    • Nodular regenerative hyperplasia of the liver

    • Portal Hypertension

      Early-onset familial non-cirrhotic portal hypertension…
    • Porto-sinusoidal vascular disease (PSVD)

    • Sinusoidal obstruction syndrome/ Hepatic veno-occlusive disease

Liver disease in pregnancy

  • Acute fatty liver of pregnancy

    Pregnancy related liver disease represents a challenging problem. Often, there is overlap between many of the individual conditions. In general, if any of the following conditions have occurred in one pregnancy, there is a high likelihood of occurrence in a…
  • HELLP syndrome

    Pregnancy related liver disease represents a challenging problem. Often, there is overlap between many of the individual conditions. In general, if any of the following conditions have occurred in one pregnancy, there is a high likelihood of occurrence in a…
  • Intrahepatic cholestasis of pregnancy (ICP)

Rare causes of acute liver failure

Transplantation

  • Liver transplantation

    A liver transplant is a major life change. But in the case of various liver diseases, it can become the only chance to live a long time with a good quality of life. Good information then helps to cope with…